A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.

ABSTRACT: Patients with Silver-Russell syndrome (SRS) show an intrauterine and postnatal growth restriction associated with a variable spectrum of additional features. Genetic or epigenetic alterations on chromosomes 7 and 11 can be detected in several SRS patients; however, a large fraction of cases remains with unknown genetic etiology. Here, we describe the clinical and molecular findings of a patient with a phenotype invoking SRS showing intrauterine and postnatal growth retardation, psychomotor retardation, relative macrocephaly, slightly triangular face with pointed chin, clinodactyly, and a slight body asymmetry, in whom single-nucleotide polymorphism oligonucleotide array analysis led to the identification of a de novo 11p13 duplication containing many genes that could be functionally relate

SUBMITTER: Palumbo O 

PROVIDER: S-EPMC3919491 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature